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An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease

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ClinicalTrials.gov Identifier: NCT00357786
Recruitment Status : Completed
First Posted : July 27, 2006
Last Update Posted : August 17, 2011
Information provided by:

Study Description
Brief Summary:

This study will continue to evaluate the safety of using intravenous doses of Replagal for two patients with Fabry disease. Fabry disease is a genetic disorder inherited as an X-linked recessive trait. It causes a deficiency in the enzyme alpha galactosidase, which normally breaks down a lipid, or fatty substance called ceramidetrihexoside, a building block in all cells of the body. The deficiency in breaking down the lipid eventually causes that lipid to accumulate and injure cells. Vascular, renal, and neurological problems are the results. It is not known exactly how lipid accumulation brings about such problems, studies of another lipid storage disorder.

Two patients 7 to 17 years of age who have Fabry disease and have been receiving intravenous infusions of Replagal at a dose of 0.2 mg/kg of body weight every 2 weeks may be eligible for this study.

Participants will undergo the following tests and procedures:

  • Physical examination.
  • Neurological examination.
  • Medical and medication history.
  • Vital signs.
  • Assessment of height and weight.
  • Blood tests to determine complete blood count and chemistries.
  • Electrocardiogram.
  • Doppler blood flow study.

Participants will go through a baseline evaluation, over a period of about 1 day. They will receive an intravenous infusion of Replagal every other week, at the dose of 0.2 mg/kg of body weight. Vital signs will be measured before the infusion and immediately and after and 1 hour afterward. There will be careful monitoring for allergic reactions and side effects. The infusion time takes approximately 40 minutes.

This study will last at least 1 year, or until the sponsor doing the investigating or the drug manufacturer decides to withdraw support of the study.

Condition or disease Intervention/treatment Phase
Fabry Disease Drug: Replagal agalsidase alfa Drug: Replagal Phase 1

Detailed Description:
Objectives: This goal of this study is to continue treating two patients with Fabry disease using enzyme replacement therapy (ERT) using Replagal (agalsidase alfa) at a dose of 0.2 mg/kg of body weight administered every 2 weeks. Study Population: Two patients with Fabry disease who are currently on clinical research protocols 00-N-0185/TKT011 or 02-N-0220/TKT015 and who are stable on ERT. Design: This is an open label study. Outcome Measures: Mainly safety parameters will be obtained. Study duration is estimated to be 2 years.

Study Design

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 3 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal® (Registered Trademark) in Patients With Fabry Disease
Study Start Date : October 2003
Primary Completion Date : December 2008

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Arms and Interventions

Arm Intervention/treatment
Experimental: A
Enzyme replacement for Fabry's Disease
Drug: Replagal agalsidase alfa Drug: Replagal

Outcome Measures

Primary Outcome Measures :
  1. Kidney function [ Time Frame: 3 years ]

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   39 Years to 45 Years   (Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
  • Patients are under direct care of PI and have previously been treated with Replagal under TKT, Inc. sponsored study numbers 02-N-0220/TKT/010/015.
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00357786

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
More Information

Responsible Party: Raphael Schiffmann, M.D./National Institute of Neurological Disorders and Stroke, National Institutes of Health
ClinicalTrials.gov Identifier: NCT00357786     History of Changes
Other Study ID Numbers: 040027
First Posted: July 27, 2006    Key Record Dates
Last Update Posted: August 17, 2011
Last Verified: December 2008

Keywords provided by National Institutes of Health Clinical Center (CC):
Lysosomal Disease
Peripheral Neuropathy
Storage Disorder

Additional relevant MeSH terms:
Fabry Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Metabolism, Inborn Errors